p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity. Low alpha galactosidase-A enzyme activity causes progressive accumulation of globotriaosylceramide in various tissues and organs including...
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Published in | Anatolian journal of cardiology Vol. 26; no. 5; pp. 411 - 413 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Turkey
Turkish Society of Cardiology
01.05.2022
KARE Publishing |
Subjects | |
Online Access | Get full text |
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Summary: | Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity. Low alpha galactosidase-A enzyme activity causes progressive accumulation of globotriaosylceramide in various tissues and organs including the myocardium, kidney, and nervous system. Left ventricular hypertrophy (LVH) is the most common cause of cardiac involvement in patients with Fabry disease. Over a thousand different mutations have been identified in the GLA gene up to now. We describe a case of a 54-year-old male with Fabry disease due to a novel GLA gene mutation. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Cite this article as: Barman HA, Atıcı A, Özyıldırım S, Ceylaner S, Dursun M, Doğan SM. p.R220L is a likely pathogenic novel GLA gene mutation responsible for Fabry disease. Anatol J Cardiol 2022;26(5):411-413. |
ISSN: | 2149-2263 2149-2271 |
DOI: | 10.5152/AnatolJCardiol.2021.393 |